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Posts Tagged ‘hereditary’


1:00PM 11/13/2014 – 10th Annual Personalized Medicine Conference at the Harvard Medical School, Boston

REAL TIME Coverage of this Conference by Dr. Aviva Lev-Ari, PhD, RN – Director and Founder of LEADERS in PHARMACEUTICAL BUSINESS INTELLIGENCE, Boston http://pharmaceuticalintelligence.com

1:00 p.m. Panel Discussion Genomics in Prenatal and Childhood Disorders

Genomics in Prenatal and Childhood Disorders

     Moderator:

David Sweetser, M.D., Ph.D.
Unit Chief, Division of Medical Genetics; Attending Physician in Pediatric Hematology/Oncology,
Massachusetts General Hospital for Children

Genomics revolutionized medicine and genetic variation in a larger scale

Cases one on Causing Autism – mutations in a gene of synapse formation, clinical trials

Treatment: IGF1

Genetics: embryo – implant only the healthy embryo – newborn comprehensive genetics testing in the medical record integrated – Standard language of GENE-DRUG interaction not only drug-drug interaction

Potential Harms: May or may not happen disease – stigma issues

Explaining to parents the conditions is very difficult for MDs

Panelists:

3. Diana Bianchi, M.D.
Executive Director, Mother Infant Research Institute;
Vice Chair for Research and Academic Affairs,
Department of Pediatrics; Attending Geneticists and Neonatologist;
Natalie V. Zucker Professor, Tufts University School of Medicine

Medical Geneticist – Pediatrics

  • Prenatal screening and diagnosis – chromosomal abnormality – Down Syndrome, testing is more precise 70% fewer procedures to correct defects due to screening prenatally.
  • Prenatal diagnostics — patient is not in front of us, ultrasound examination, options to terminate pregnancies, genetic counseling — changed due to Genomics
  • Prenatal treatment to down syndrome before the birth – Transcriptomic approach, treat the fetus prebirth
  • Standard of care – all pregnant women – must receive from MD the option for screening for down syndrome, it is a test positive or negative
  • NOW – DNA allows to test for  fetal sex, chromosome in maternal circulation fetal and maternal genetics — Mother may have chromosomal variation
  • high false positive – DNA for Down Syndrome, 97% effective Micro duplication only 5%
  • genetics information protection act – sue prospective employer using Genome, life insurance issues
  • most data available is on Down Syndrome, of all parents informed of a fetus with Down Syndrome – 40% continues the pregnancy
  • accuracy in testing, offering choice and treatment are LEADING principles NOT elimination of a disease (i.e. down syndromes)
  • in ten years — GENOME OF EVERY FETUS TO BE SEQUENCE

for reference see Prenatal Treatment of Down’s Syndrome: a Reality?

and ref list by Dr. Bianchi

2. Holmes Morton, M.D. @ClinicSpecChild
Medical Director, Clinic for Special Children

Small population in Lancaster, PA – risk for untreatable disease 52,000 screens 4.2 millions in US are screened Target mutation analysis, diagnosis very effectively. Harrisburg, PA – small scale natural history studies

Carrier testing offered in 70s. Discourages  from marriage, culture reaction is different. Working in the community, clinical practice using exon sequencing, combine population genetics and molecular biology.Translate Genomics to Clinical, small number of risk factors

History of genetics in population important to establish treatment

Upon birth, affected newborns get matching bone marrow transplant, thus, bypass stem cells – Gene therapy is another thing

1. Benjamin Solomon, Ph.D., M.D.
Chief, Division of Medical Genomics,
Inova Translational Medicine Institute

Longer term, statistical model in asthma research,  rigorous process on patient consent, life insurance, mutation that parents also have. Consequences: actionable findings are communicated
135 Genes – sequencing for some conditions
100,000 deliveries 10% ENTER THE STUDY, CASE BY CASE BASIS O PARTICIPATE, WHO SHOULD BE TESTED

Questions from the Podium

– See more at: http://personalizedmedicine.partners.org/Education/Personalized-Medicine-Conference/Program.aspx#sthash.qGbGZXXf.dpuf

@HarvardPMConf

#PMConf

@SachsAssociates

@MGH

@MassGeneral

@TuftsMedicalCtr

@MedscapePeds

@ClinicSpecChild

@InovaHealth

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Curator: Venkat Karra, Ph.D.

Cancer is a broad group of various diseases involving unregulated cell growth. It is medically known as a malignant neoplasm. In cancer, cells divide and grow uncontrollably and invade nearby parts of the body. The cancer may also spread to more distant parts of the body through the lymphatic system or bloodstream, it is called metastasis. However, not all tumors are cancerous. Some tumors do not grow uncontrollably, do not invade neighboring tissues, and do not spread throughout the body which are called Benign tumors.

There are more than 100 types of Cancers. Follow the link to know more:

http://www.cancer.gov/cancertopics/types/alphalist

Classification of Cancers:

There are five broad groups that are used to classify cancer.

  1. Carcinomas: These are characterized by cells that cover internal and external parts of the body such as lung, breast, and colon cancer.
  2. Sarcomas:These are characterized by cells that are located in bone, cartilage, fat, connective tissue, muscle, and other supportive tissues.
  3. Lymphomas:These are cancers that begin in the lymph nodes and immune system tissues.
  4. Leukemias:These are cancers that begin in the bone marrow and often accumulate in the bloodstream.
  5. Adenomas:These are cancers that arise in the thyroid, the pituitary gland, the adrenal gland, and other glandular tissues.

Causes

  • Hereditary (about 5-10%)
  • Environmental (90-95% of cases) factors e.g.,
  • Tobacco (25-30%) – about 70% of the lung cancers are due to tobacco habit
  • Infections (15-20%)
  • Radiation (both ionizing and non-ionizing, up to 10%)
  • Obesity (30-35%) and
  • Pollutants,Sedentary life, poor diet etc. are likely to cause cancer.

These can directly damage genes or combine with existing genetic faults within cells to cause the disease.

Detection

Presence of certain signs and symptoms, screening tests including medical imaging etc. can be used.

Diagnosis

Cancer can be diagnosed by microscopic examination of a tissue sample called biopsy.

Visit Link for details: http://cancer.stanford.edu/information/cancerDiagnosis/

Treatment

Cancer is usually treated with chemotherapy, radiation therapy and surgery.

Survival

Survival depends greatly by the type and location of the cancer and the extent of disease at the start of treatment. The risk of developing cancer generally increases with age.

Young People with Cancer, visit the following link for details:

http://www.cancer.gov/cancertopics/coping/youngpeople/page6

For Types of Childhood Cancer, visit the following link:

http://www.cancer.gov/cancertopics/coping/youngpeople/page13

For common medical procedures, visit the following link:
http://www.cancer.gov/cancertopics/coping/youngpeople/page6

Signs and Symptoms

Initially there will be no signs and symptoms but only appearing as the mass that continues to grow or ulcerates. The findings that result depends on the type and location of the cancer. For example,

Mass effects from Lung Cancer – can cause blockage of the bronchus resulting in cough (coughing up blood if there is ulceration) or pneumonia.

Oesophageal Cancer – can cause narrowing of the esophagus making it difficult or painful to swallow.

Colorectal Cancer – may lead to changes in bowel habits and bleeding leading to anemia.

General symptoms may include:

  • Unintentional weight loss,
  • Fever,
  • Being excessively tired,
  • Changes to the skin,
  • Hodgkin disease,
  • Leukemias, and
  • Persistent fever due to Cancers of the liver or kidney.

Symptoms of metastasis include:

  • Enlarged lynph nodes which can be felt or sometimes seen under the skin and are typically hard),
  • Enlarged liver or spleen which can be felt in the abdomen,
  • Pain or fracture of affected bones, and
  • Neurological symptoms.

It is nearly impossible to prove what caused a cancer in any individual, because most cancers have multiple possible causes. For example, lung cancer could be due to tobacco habbit or could be a result of air pollution or radiation.

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